Sdr poliendocrine Flashcards

1
Q

tipi

A
  • MEN 1; sdr Wermer
  • MEN 2: sdr Sipple e sdr Gorlin
  • FMTC: familial medullary thyroid cancer
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2
Q

MEN 1: mutazione

A

inattivazione gene oncosoppressore MEN1 (menina)

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3
Q

MEN1: età

A

20-40 aa

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4
Q

MEN1: caratteristiche

A
  1. IPT primario da iperplasia paratiroidea -> nefrocalcinosi, nefrolitiasi
  2. NET pancreatici: gastrinoma, insulinoma, VIPoma
  3. adenomi ipofisari: PRLoma -> iperprolattinemia
    altre neoplasie: adenomi surrenalici, tiroidei, k e lipomi
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5
Q

MEN1: terapia

A

chirurgia + follow up a vita per elevate % recidive

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6
Q

MEN2: mutazione

A

attivazione oncogene RET

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7
Q

MEN2a: sdr

A

Sipple

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8
Q

MEN2a: caratteristiche

A
  • k midollare tiroideo 100%
  • feocromocitoma 50%
  • IPT 10-20%
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9
Q

MEN2b: caratteristiche

A
  • k midollare tiroideo 100%
  • feocromocitoma 50%
  • neurofibromatosi: neurinomi multipli + habitus marfanoide
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